Variant report

Variant	nsv871924
Chromosome Location	chr1:102819484-102916914
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:289)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:102885486-102885777	HepG2	liver:	n/a	n/a
2	ATF1	chr1:102831922-102832055	K562	blood:	n/a	n/a
3	BATF	chr1:102896928-102897159	GM12878	blood:	n/a	chr1:102897077-102897088
4	CBX3	chr1:102900063-102900391	K562	blood:	n/a	n/a
5	CBX3	chr1:102900059-102900338	K562	blood:	n/a	n/a
6	CEBPB	chr1:102845346-102845634	HepG2	liver:	n/a	chr1:102845619-102845632 chr1:102845492-102845503
7	CEBPB	chr1:102843548-102843788	IMR90	lung:	n/a	n/a
8	CHD2	chr1:102900092-102900317	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr1:102900200-102900350	GM12870	blood:	n/a	n/a
10	CTCF	chr1:102900120-102900270	HepG2	liver:	n/a	n/a
11	CTCF	chr1:102900180-102900330	HRPEpiC	eye:	n/a	n/a
12	CTCF	chr1:102900180-102900330	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr1:102900180-102900330	HUVEC	blood vessel:	n/a	n/a
14	CTCF	chr1:102900180-102900330	GM12868	blood:	n/a	n/a
15	CTCF	chr1:102900220-102900370	RPTEC	kidney:	n/a	n/a
16	CTCF	chr1:102900180-102900330	HBMEC	blood vessel:	n/a	n/a
17	CTCF	chr1:102900200-102900350	HVMF	connective:	n/a	n/a
18	CTCF	chr1:102900003-102900387	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr1:102900120-102900270	NHLF	lung:	n/a	n/a
20	CTCF	chr1:102900180-102900330	GM12867	blood:	n/a	n/a
21	CTCF	chr1:102900160-102900310	NB4	blood:	n/a	n/a
22	CTCF	chr1:102900036-102900355	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr1:102899940-102900090	HFF-Myc	foreskin:	n/a	n/a
24	CTCF	chr1:102900089-102900392	LNCaP	prostate:	n/a	n/a
25	CTCF	chr1:102900180-102900330	GM12865	blood:	n/a	n/a
26	CTCF	chr1:102900180-102900330	GM12871	blood:	n/a	n/a
27	CTCF	chr1:102900034-102900319	A549	lung:	n/a	n/a
28	CTCF	chr1:102900055-102900309	A549	lung:	n/a	n/a
29	CTCF	chr1:102900040-102900190	K562	blood:	n/a	n/a
30	CTCF	chr1:102900140-102900290	HCPEpiC	choroid plexus:	n/a	n/a
31	CTCF	chr1:102900117-102900362	HepG2	liver:	n/a	n/a
32	CTCF	chr1:102900161-102900296	Pancreas_OC	pancreas:	n/a	n/a
33	CTCF	chr1:102900140-102900290	HMF	breast:	n/a	n/a
34	CTCF	chr1:102900140-102900290	BJ	skin:	n/a	n/a
35	CTCF	chr1:102900280-102900430	HFF-Myc	foreskin:	n/a	n/a
36	CTCF	chr1:102900240-102900390	HAc	cerebellar:	n/a	n/a
37	CTCF	chr1:102900200-102900350	GM12868	blood:	n/a	n/a
38	CTCF	chr1:102900145-102900314	ECC-1	luminal epithelium:	n/a	n/a
39	CTCF	chr1:102900240-102900390	SAEC	small airway:	n/a	n/a
40	CTCF	chr1:102840313-102840442	LNCaP	prostate:	n/a	n/a
41	CTCF	chr1:102900200-102900350	HCT-116	colon:	n/a	n/a
42	CTCF	chr1:102899920-102900070	A549	lung:	n/a	n/a
43	CTCF	chr1:102900240-102900390	HMEC	breast:	n/a	n/a
44	CTCF	chr1:102900000-102900150	GM12878	blood:	n/a	n/a
45	CTCF	chr1:102900037-102900337	K562	blood:	n/a	n/a
46	CTCF	chr1:102900240-102900390	HCT-116	colon:	n/a	n/a
47	CTCF	chr1:102900108-102900353	GM20000	blood:	n/a	n/a
48	CTCF	chr1:102900120-102900270	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chr1:102900106-102900349	MCF-7	breast:	n/a	n/a
50	CTCF	chr1:102900070-102900369	GM19238	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:102863880..102865440-chr1:102870522..102872481,2	K562	blood:
2	chr1:102863880..102865440-chr1:102870522..102872481,2	K562	blood:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OLFM3-1	chr1:102830569-102830793	XLOC_000943
2	lnc-OLFM3-1	chr1:102855050-102855186	XLOC_000943
3	lnc-OLFM3-1	chr1:102854091-102854185	XLOC_000943
4	lnc-OLFM3-1	chr1:102852644-102852807	XLOC_000943
5	lnc-OLFM3-1	chr1:102853515-102853765	XLOC_000943
6	lnc-OLFM3-1	chr1:102852918-102852977	XLOC_000943
7	lnc-OLFM3-1	chr1:102854091-102854120	XLOC_000943
8	lnc-OLFM3-1	chr1:102852918-102852977	XLOC_000943
9	lnc-OLFM3-1	chr1:102854091-102854185	XLOC_000943
10	lnc-OLFM3-1	chr1:102855050-102855163	XLOC_000943
11	lnc-OLFM3-1	chr1:102852761-102852807	XLOC_000943

No data

Variant related genes	Relation type
ENSG00000233359	TF binding region
SYNE2	miRNA target sites
LNX2	miRNA target sites
PRNP	miRNA target sites
MPHOSPH9	miRNA target sites
C10orf26	miRNA target sites
GCET2	miRNA target sites

Extended variants
information (count: 164 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372652181	chr1:102828237-102828238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538490351	chr1:102828244-102828245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556484027	chr1:102828288-102828289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192952205	chr1:102828322-102828323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11809901	chr1:102828330-102828331	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs563044394	chr1:102828369-102828370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77379115	chr1:102828389-102828390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544918783	chr1:102828407-102828408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138419573	chr1:102828425-102828426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541038376	chr1:102828464-102828465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114998130	chr1:102828535-102828536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1261697	chr1:102828586-102828587	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs1241416	chr1:102828593-102828594	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs570110766	chr1:102830580-102830581	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs1573001	chr1:102830625-102830626	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs577498461	chr1:102830675-102830676	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs1573002	chr1:102830754-102830755	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs200979159	chr1:102830755-102830756	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs565020394	chr1:102845852-102845853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532411263	chr1:102845859-102845860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550558802	chr1:102845865-102845866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141684792	chr1:102845887-102845888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530289136	chr1:102845960-102845961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528558228	chr1:102845964-102845965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548787373	chr1:102846011-102846012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182159327	chr1:102846039-102846040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534375814	chr1:102846049-102846050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368174526	chr1:102846073-102846074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553144809	chr1:102846100-102846101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116086917	chr1:102846106-102846107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79486841	chr1:102846117-102846118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368812953	chr1:102846127-102846128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs4142739	chr1:102846133-102846134	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs12119077	chr1:102846144-102846145	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs11164492	chr1:102846147-102846148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554824218	chr1:102846168-102846169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78123449	chr1:102846171-102846172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181911678	chr1:102852644-102852645	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs554419361	chr1:102852792-102852793	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs540704987	chr1:102852919-102852920	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs2050825	chr1:102852945-102852946	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs1340403	chr1:102852953-102852954	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs542572669	chr1:102852963-102852964	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs529689626	chr1:102853532-102853533	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs180772511	chr1:102853673-102853674	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs151021848	chr1:102853711-102853712	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs532149925	chr1:102853712-102853713	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs76182768	chr1:102853740-102853741	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs367638764	chr1:102853745-102853746	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs570659165	chr1:102853748-102853749	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:102828200-102828600	Enhancers	HUVEC	blood vessel
2	chr1:102845800-102846200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:102885600-102886000	Enhancers	Liver	Liver
4	chr1:102885600-102886000	Enhancers	HepG2	liver
5	chr1:102900000-102900400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:102901200-102901400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:102901200-102901600	Enhancers	GM12878-XiMat	blood
8	chr1:102901400-102901600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:102907800-102908400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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